WebMay 1, 2024 · Whole genome sequences were analyzed on 5,058 individuals with CF. We focused on the full gene sequence and identified disease-causing variants in three phases: screening for known and structural variants; discovery of novel loss-of-function variants; and investigation of remaining variants. Results WebJul 7, 2024 · To predict variant effects on splicing, a variety of algorithms have been developed; these include MaxEntScan (Yeo and Burge 2004 ), CryptSplice (Lee et al. 2024) and SpliceAI (Jaganathan et al. 2024) to predict the spliceogenicity of variants located directly in splice sites, Skippy (Woolfe et al. 2010) and MutPred Splice (Mort et al. 2014) …
Issue: The American Journal of Human Genetics - Cell
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WebApr 27, 2024 · CryptSplice is a free, open-source software, designed for identifying high confidence candidate splice sequences upon variation in the DNA sequence. The … WebAs splicing is highly tissue specific, these data indicate that algorithms for the prediction of variant splice effects in pharmacogenetics should ideally be trained on positive control sets for which aberrant splicing is confirmed in the tissue of interest, i.e., primarily liver. WebMay 4, 2024 · The combined method, CryptSplice, identified and correctly predicted the effect of 18 of 21 (86%) known splice-altering variants in CFTR, a well-studied gene whose loss-of-function variants cause cystic fibrosis (CF). how to shave long beard